Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

Completed

• Conditions: Hypohidrotic Ectodermal Dysplasia; X-Linked Hypohidrotic Ectodermal Dysplasia

• Registration Number: NCT01398397
• Lead Sponsor: Edimer Pharmaceuticals

Brief Summary

This study is being done to collect information about people who have or may have Hypohidrotic Ectodermal Dysplasia (HED) or X-linked Hypohidrotic Ectodermal Dysplasia (XLHED). This study will allow Edimer Pharmaceuticals to know more about HED/XLHED so that hopefully the investigators can develop a drug to treat this condition. In this study Edimer will retrospectively review and abstract (summarize) medical records of people that have or may have HED/XLHED in order to further understand the natural history and disease characteristics.

Detailed Description

Not available

Study Timeline

• Study Start: 2011-04
• Study First Submitted: 2011-07-19
• Study First Submitted QC: 2011-07-19
• Study First Posted: 2011-07-20
• Status Verified: 2012-06
• Last Update Submitted: 2012-06-26
• Last Update Posted: 2012-06-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 11

Inclusion Criteria

-Males or females with:

1. the clinical characteristics of HED, including at least two of the following characteristics: a history of decreased sweating;abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns);sparseness of scalp and body hair.

   -OR-

2. genetically confirmed HED or XLHED;

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

Edimer Pharmaceuticals; 🇺🇸 Cambridge, Massachusetts, United States